Nephrolithiasis, X-Linked Recessive, with Renal Failure (XRN)

Alias:
X-Linked Recessive Nephrolithiasis with Renal Failure
Nephrolithiasis, Type I
Nephrolithiasis 1
Nphl1
Xrn
Nephrolithiasis, Xlinked, with Renal Failure, Type 1
Nephrolithiasis, X-Linked Recessive, Type 1
Urolithiasis, X-Linked Recessive, Type 1
Nephrolithiasis
Kidney Calculi
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Nephrolithiasis, X-Linked Recessive, with Renal Failure, also known as x-linked recessive nephrolithiasis with renal failure, is related to dent disease 1 and x-linked nephrolithiasis type i, and has symptoms including renal pain An important gene associated with Nephrolithiasis, X-Linked Recessive, with Renal Failure is CLCN5 (Chloride Voltage-Gated Channel 5). The drugs Tadalafil and Sodium citrate have been mentioned in the context of this disorder. Affiliated tissues include kidney and bone, and related phenotypes are renal insufficiency and nephrolithiasis
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
XL
XLD
Unknown
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1
10
7

Medical Symptom

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Categorization
Description
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Orphanet Frequency
HPO Source Accession
No data available

Gene & Mutation

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Related Drugs

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No data available

Disease Model

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Name
MGI
Related Gene
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Publications
No data available

References Literature

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IF
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